title: MSX1 and PAX9 investigation in monozygotic twins with variable expression of tooth agenesis.
abstract: Non-syndromic agenesis of permanent teeth is one of the most common anomalies in human development, a multifactorial characteristic caused by genetic and environmental factors. We describe a pair of monozygotic twins who showed second premolar and third molar agenesis, albeit with different expressions. We studied the DNA of two genes, paired domain box gene 9 (PAX9) and muscle segment homeodomain-homeobox1 (MSX1), encoding transcription factors that earlier studies found were involved in the manifestation of this condition. No specific causative mutation was found. However, we detected a C→T change in MSX1 exon 2 in both twins, suggesting that this polymorphism might be involved in the trait's expression.
authors.affiliation: Department of Orthodontics, School of Dentistry, Federal University of Rio Grande do Sul, Porto Alegre, Rio Grande do Sul, Brazil.
authors.forename: Sofia I N
authors.initials: SI
authors.lastname: Lopez
authors.forename: Karina S
authors.initials: KS
authors.lastname: Mundstock
authors.forename: Vanessa R
authors.initials: VR
authors.lastname: Paixão-Côrtes
authors.forename: Lavínia
authors.initials: L
authors.lastname: Schüler-Faccini
authors.forename: Carlos A
authors.initials: CA
authors.lastname: Mundstock
authors.forename: Maria Cátira
authors.initials: MC
authors.lastname: Bortolini
authors.forename: Francisco M
authors.initials: FM
authors.lastname: Salzano
mesh_terms: D000848:Anodontia / Q000235:genetics*; D002648:Child; D017931:DNA Primers / Q000737:chemistry / Q000235:genetics; D005220:Fathers; D005260:Female; D006801:Humans; D051957:MSX1 Transcription Factor / Q000235:genetics*; D008297:Male; D009035:Mothers; D051764:PAX9 Transcription Factor / Q000235:genetics*; D011110:Polymorphism, Genetic / Q000235:genetics*; D014070:Tooth / Q000254:growth & development* / Q000473:pathology; D014430:Twins, Monozygotic / Q000235:genetics*
chemical_list: D017931:DNA Primers; D051957:MSX1 Transcription Factor; C484083:MSX1 protein, human; D051764:PAX9 Transcription Factor; C497323:PAX9 protein, human